ClinVar Miner

List of variants reported as pathogenic for DeSanto-Shinawi syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_016628.5(WAC):c.1101dup (p.Pro368fs) rs1841061596
NM_016628.5(WAC):c.112del (p.Ser38fs) rs864321693
NM_016628.5(WAC):c.1233del (p.Ser412fs) rs2132825843
NM_016628.5(WAC):c.1349dup (p.Tyr450Ter)
NM_016628.5(WAC):c.1380_1383del (p.Asn461fs)
NM_016628.5(WAC):c.139C>T (p.Arg47Ter) rs368543869
NM_016628.5(WAC):c.1437+1G>A rs1554791124
NM_016628.5(WAC):c.1470_1477del (p.Gln492fs) rs1589247025
NM_016628.5(WAC):c.1503dup (p.Asp502Ter) rs2132853185
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_016628.5(WAC):c.1557-184_1747-188del
NM_016628.5(WAC):c.1631dup (p.Gln545fs) rs2132862551
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter) rs1554791943
NM_016628.5(WAC):c.1721G>A (p.Trp574Ter) rs864321690
NM_016628.5(WAC):c.1788del (p.His597fs)
NM_016628.5(WAC):c.1830_1833dup (p.Val612fs)
NM_016628.5(WAC):c.1837C>T (p.Arg613Ter) rs1085307480
NM_016628.5(WAC):c.1852C>T (p.Gln618Ter) rs864321634
NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)
NM_016628.5(WAC):c.207C>A (p.Tyr69Ter)
NM_016628.5(WAC):c.263_266del (p.Glu88fs) rs864321689
NM_016628.5(WAC):c.265_266del (p.Arg89fs)
NM_016628.5(WAC):c.267_268dup (p.Asp90fs) rs864321691
NM_016628.5(WAC):c.284dup (p.Tyr95Ter)
NM_016628.5(WAC):c.29_30del (p.Arg10fs) rs754451905
NM_016628.5(WAC):c.310del (p.His104fs) rs1589196229
NM_016628.5(WAC):c.374C>A (p.Ser125Ter) rs864321692
NM_016628.5(WAC):c.405G>A (p.Trp135Ter) rs1839996657
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_016628.5(WAC):c.464dup (p.Gln156fs)
NM_016628.5(WAC):c.498-2A>G rs1135401769
NM_016628.5(WAC):c.508C>T (p.Gln170Ter) rs1840040809
NM_016628.5(WAC):c.670_673del (p.Thr224fs) rs1589219377

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